Sengers Syndrome is a rare mitochondrial disorder. Its manifestations may be present at or soon after birth.
Gene: acylglycerol kinase (AGK)
Acylglycerol kinase is a mitochondrial membrane protein and a subunit of the TIM22 protein import complex. It is involved in glycolipid and lipid metabolism and catalyzes the formation of lysophosphatidic and phosphatidic acids.
Inheritance: autosomal recessive
Clinical features include:
(1) hypertrophic cardiomyopathy
(2) congenital cataracts
(4) skeletal myopathy with exercise intolerance
(5) lactic acidosis
(6) normal mental development
To read more or access our algorithms and calculators, please log in or register.